Mutagenetix > Incidental Mutation

Incidental Mutation 'R1485:Notch2'

163379

Institutional Source

Beutler Lab

Gene Symbol

Notch2

Ensembl Gene

ENSMUSG00000027878

Gene Name

notch 2

Synonyms

Motch B, N2

MMRRC Submission

039538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1485 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97920854-98057683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98007573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 441 (H441R)

Ref Sequence

ENSEMBL: ENSMUSP00000078741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079812]

AlphaFold

O35516

Predicted Effect

probably benign
Transcript: ENSMUST00000079812
AA Change: H441R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: H441R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	27	63	5.79e-2	SMART
EGF	67	102	1.54e-6	SMART
EGF	108	143	6.25e-7	SMART
EGF	147	180	5.28e-5	SMART
EGF_CA	182	219	6.14e-15	SMART
EGF	224	258	5.08e-7	SMART
EGF_CA	260	296	1.95e-8	SMART
EGF_CA	298	336	3.91e-8	SMART
EGF_CA	338	374	7.69e-7	SMART
EGF	378	413	6.86e-4	SMART
EGF_CA	415	454	4.15e-12	SMART
EGF_CA	456	492	3.24e-14	SMART
EGF_CA	494	530	4.77e-12	SMART
EGF_CA	532	568	2.04e-11	SMART
EGF_CA	570	605	1.18e-7	SMART
EGF_CA	607	643	7.12e-11	SMART
EGF_CA	645	680	1.82e-8	SMART
EGF_CA	682	718	1.42e-10	SMART
EGF_CA	720	755	1.25e-6	SMART
EGF_CA	757	793	3.61e-12	SMART
EGF_CA	795	831	1.53e-10	SMART
EGF	836	871	1.34e-6	SMART
EGF_CA	873	909	6.05e-14	SMART
EGF_CA	911	947	9.54e-12	SMART
EGF_CA	949	985	1.39e-13	SMART
EGF_CA	987	1023	1.26e-11	SMART
EGF_CA	1025	1061	9.31e-15	SMART
EGF	1066	1099	1.39e-4	SMART
EGF	1104	1147	2.6e-4	SMART
EGF_CA	1149	1185	1.55e-11	SMART
EGF_CA	1187	1223	2.74e-12	SMART
EGF_CA	1225	1262	4.15e-12	SMART
EGF	1267	1302	1.43e-1	SMART
EGF	1307	1343	2.33e-6	SMART
EGF	1377	1412	9.85e-5	SMART
NL	1418	1456	8.55e-19	SMART
NL	1459	1497	2.27e-14	SMART
NL	1498	1535	1.16e-11	SMART
NOD	1539	1595	3.4e-28	SMART
NODP	1619	1679	1.66e-22	SMART
transmembrane domain	1680	1702	N/A	INTRINSIC
ANK	1828	1872	2.18e2	SMART
ANK	1877	1906	3.36e-2	SMART
ANK	1910	1940	1.81e2	SMART
ANK	1944	1973	6.61e-1	SMART
ANK	1977	2006	5.24e-4	SMART
ANK	2010	2039	3.41e-3	SMART
low complexity region	2179	2193	N/A	INTRINSIC
low complexity region	2232	2241	N/A	INTRINSIC
DUF3454	2382	2447	4.62e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198324

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in embryonic or neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,727,738 (GRCm39)	S301P	probably damaging	Het
AI987944	C	A	7: 41,023,954 (GRCm39)	G342*	probably null	Het
Alox5	A	T	6: 116,401,125 (GRCm39)	F212I	probably damaging	Het
Apaf1	A	T	10: 90,896,105 (GRCm39)	D322E	probably benign	Het
Aste1	T	A	9: 105,275,009 (GRCm39)	Y355*	probably null	Het
Bloc1s6	T	G	2: 122,588,063 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,176,406 (GRCm39)	Y1836C	probably damaging	Het
Castor2	T	A	5: 134,165,972 (GRCm39)	L240Q	probably damaging	Het
Ccdc77	G	A	6: 120,315,101 (GRCm39)	Q183*	probably null	Het
Ccdc92	T	C	5: 124,913,335 (GRCm39)	T65A	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Coch	G	T	12: 51,645,072 (GRCm39)	V209F	probably damaging	Het
Cops3	G	A	11: 59,718,715 (GRCm39)	T193M	possibly damaging	Het
Cped1	T	C	6: 22,132,387 (GRCm39)		probably null	Het
D6Ertd527e	A	T	6: 87,088,067 (GRCm39)	S77C	unknown	Het
Defb7	A	G	8: 19,545,110 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,590,603 (GRCm39)		probably null	Het
Entpd6	T	A	2: 150,610,843 (GRCm39)		probably null	Het
Evc2	C	T	5: 37,527,900 (GRCm39)	A303V	probably benign	Het
Fhod1	T	C	8: 106,063,430 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,712,676 (GRCm39)	F54I	probably benign	Het
Gm7104	C	A	12: 88,252,333 (GRCm39)		noncoding transcript	Het
Grid1	A	T	14: 34,544,540 (GRCm39)	D37V	probably damaging	Het
Icam5	G	A	9: 20,947,702 (GRCm39)	A560T	probably benign	Het
Igf2r	A	C	17: 12,910,172 (GRCm39)	I2019S	probably damaging	Het
Kcnj9	A	G	1: 172,153,929 (GRCm39)	V65A	probably benign	Het
Kif3b	T	C	2: 153,164,851 (GRCm39)		probably null	Het
Kmt2a	T	G	9: 44,738,225 (GRCm39)		probably benign	Het
Marchf6	T	A	15: 31,498,839 (GRCm39)	T153S	probably damaging	Het
Mcam	T	A	9: 44,048,060 (GRCm39)	I72N	probably damaging	Het
Ncoa4-ps	A	G	12: 119,224,785 (GRCm39)		noncoding transcript	Het
Nkain3	T	C	4: 20,484,932 (GRCm39)	I48M	probably damaging	Het
Nop58	T	A	1: 59,737,504 (GRCm39)	I107N	probably damaging	Het
Nr1d1	G	A	11: 98,661,187 (GRCm39)	R360C	probably benign	Het
Or56a5	A	G	7: 104,792,888 (GRCm39)	I210T	probably benign	Het
Pclo	T	C	5: 14,763,793 (GRCm39)	S4089P	unknown	Het
Pi4kb	A	G	3: 94,901,698 (GRCm39)	E455G	probably damaging	Het
Piezo1	T	C	8: 123,208,788 (GRCm39)	Y2525C	probably damaging	Het
Pik3c2a	A	G	7: 116,016,908 (GRCm39)	V283A	possibly damaging	Het
Pramel12	G	A	4: 143,144,188 (GRCm39)	R178Q	probably benign	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Rasa2	A	G	9: 96,426,401 (GRCm39)	I815T	probably benign	Het
Rev1	A	T	1: 38,127,653 (GRCm39)	D202E	probably benign	Het
Septin14	C	T	5: 129,770,118 (GRCm39)	A193T	probably damaging	Het
Sh3tc1	T	C	5: 35,876,370 (GRCm39)	S112G	probably benign	Het
Siah3	T	A	14: 75,762,994 (GRCm39)	Y82N	probably benign	Het
Slc2a7	T	C	4: 150,250,853 (GRCm39)	S425P	probably damaging	Het
Slc9a2	C	T	1: 40,765,548 (GRCm39)	L313F	probably damaging	Het
Smdt1	T	C	15: 82,230,433 (GRCm39)	V50A	probably benign	Het
Spata31e2	T	G	1: 26,724,961 (GRCm39)	K73T	possibly damaging	Het
Supt3	G	A	17: 45,347,607 (GRCm39)	A197T	probably benign	Het
Tex10	A	G	4: 48,436,492 (GRCm39)	I742T	possibly damaging	Het
Tex44	T	A	1: 86,355,640 (GRCm39)	H516Q	possibly damaging	Het
Tfdp1	T	G	8: 13,420,917 (GRCm39)	D171E	probably damaging	Het
Trim31	A	C	17: 37,209,568 (GRCm39)	D108A	probably damaging	Het
Ubr1	T	C	2: 120,791,579 (GRCm39)	N135S	probably benign	Het
Uso1	G	A	5: 92,328,422 (GRCm39)	V340I	possibly damaging	Het
Utp6	A	C	11: 79,839,749 (GRCm39)	V313G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,109 (GRCm39)	V554A	possibly damaging	Het
Xdh	C	A	17: 74,221,014 (GRCm39)	E572*	probably null	Het
Zbtb7c	T	C	18: 76,270,061 (GRCm39)	S50P	probably damaging	Het
Zfp672	A	G	11: 58,220,395 (GRCm39)		probably benign	Het
Zzef1	A	G	11: 72,791,635 (GRCm39)		probably null	Het

Other mutations in Notch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Notch2	APN	3	98,018,991 (GRCm39)	missense	possibly damaging	0.77
IGL01517:Notch2	APN	3	98,045,971 (GRCm39)	missense	probably benign	0.16
IGL01630:Notch2	APN	3	98,053,934 (GRCm39)	missense	possibly damaging	0.77
IGL01637:Notch2	APN	3	98,053,376 (GRCm39)	missense	probably damaging	1.00
IGL01828:Notch2	APN	3	97,979,929 (GRCm39)	missense	probably damaging	1.00
IGL01998:Notch2	APN	3	98,050,422 (GRCm39)	missense	probably damaging	1.00
IGL02008:Notch2	APN	3	98,054,612 (GRCm39)	missense	probably damaging	1.00
IGL02030:Notch2	APN	3	98,006,737 (GRCm39)	splice site	probably null
IGL02155:Notch2	APN	3	98,045,806 (GRCm39)	missense	probably damaging	0.98
IGL02268:Notch2	APN	3	98,044,713 (GRCm39)	missense	probably damaging	1.00
IGL02301:Notch2	APN	3	98,048,870 (GRCm39)	missense	probably benign	0.08
IGL02336:Notch2	APN	3	98,045,711 (GRCm39)	missense	possibly damaging	0.73
IGL02340:Notch2	APN	3	98,054,652 (GRCm39)	nonsense	probably null
IGL02536:Notch2	APN	3	98,009,723 (GRCm39)	missense	probably benign	0.03
IGL02589:Notch2	APN	3	98,011,663 (GRCm39)	critical splice acceptor site	probably null
IGL02633:Notch2	APN	3	98,024,013 (GRCm39)	splice site	probably benign
IGL02691:Notch2	APN	3	98,042,923 (GRCm39)	nonsense	probably null
IGL02832:Notch2	APN	3	98,044,689 (GRCm39)	missense	probably benign	0.12
IGL02894:Notch2	APN	3	98,009,748 (GRCm39)	nonsense	probably null
IGL02902:Notch2	APN	3	98,018,890 (GRCm39)	missense	probably damaging	1.00
IGL02967:Notch2	APN	3	98,053,460 (GRCm39)	missense	probably damaging	0.99
IGL03015:Notch2	APN	3	97,979,965 (GRCm39)	missense	possibly damaging	0.83
PIT4378001:Notch2	UTSW	3	98,050,272 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Notch2	UTSW	3	98,005,424 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Notch2	UTSW	3	98,011,778 (GRCm39)	missense	probably damaging	1.00
R0111:Notch2	UTSW	3	98,046,077 (GRCm39)	missense	probably benign	0.00
R0129:Notch2	UTSW	3	98,053,936 (GRCm39)	missense	probably benign	0.08
R0143:Notch2	UTSW	3	98,053,433 (GRCm39)	missense	probably damaging	0.99
R0480:Notch2	UTSW	3	98,053,853 (GRCm39)	missense	possibly damaging	0.88
R0523:Notch2	UTSW	3	98,018,914 (GRCm39)	missense	probably benign	0.00
R0523:Notch2	UTSW	3	97,978,286 (GRCm39)	missense	probably benign	0.34
R0531:Notch2	UTSW	3	98,009,767 (GRCm39)	splice site	probably benign
R0537:Notch2	UTSW	3	98,024,057 (GRCm39)	missense	possibly damaging	0.70
R0987:Notch2	UTSW	3	98,041,993 (GRCm39)	splice site	probably null
R1555:Notch2	UTSW	3	98,038,656 (GRCm39)	missense	possibly damaging	0.93
R1625:Notch2	UTSW	3	98,018,891 (GRCm39)	missense	probably damaging	1.00
R1699:Notch2	UTSW	3	98,052,443 (GRCm39)	missense	probably damaging	1.00
R1765:Notch2	UTSW	3	98,029,242 (GRCm39)	missense	probably damaging	1.00
R1794:Notch2	UTSW	3	98,006,863 (GRCm39)	missense	possibly damaging	0.53
R1974:Notch2	UTSW	3	97,980,071 (GRCm39)	missense	probably damaging	1.00
R2086:Notch2	UTSW	3	98,009,683 (GRCm39)	missense	probably damaging	1.00
R2099:Notch2	UTSW	3	98,022,637 (GRCm39)	missense	possibly damaging	0.79
R3778:Notch2	UTSW	3	98,053,939 (GRCm39)	missense	probably damaging	1.00
R3924:Notch2	UTSW	3	98,029,350 (GRCm39)	nonsense	probably null
R4018:Notch2	UTSW	3	98,011,881 (GRCm39)	missense	probably damaging	1.00
R4151:Notch2	UTSW	3	98,054,387 (GRCm39)	missense	possibly damaging	0.95
R4417:Notch2	UTSW	3	98,038,586 (GRCm39)	missense	possibly damaging	0.95
R4510:Notch2	UTSW	3	98,053,637 (GRCm39)	missense	probably benign	0.02
R4511:Notch2	UTSW	3	98,053,637 (GRCm39)	missense	probably benign	0.02
R4636:Notch2	UTSW	3	98,053,420 (GRCm39)	missense	probably benign	0.02
R4661:Notch2	UTSW	3	98,042,829 (GRCm39)	missense	probably damaging	1.00
R4856:Notch2	UTSW	3	98,009,735 (GRCm39)	missense	probably damaging	1.00
R4886:Notch2	UTSW	3	98,009,735 (GRCm39)	missense	probably damaging	1.00
R4945:Notch2	UTSW	3	98,019,037 (GRCm39)	missense	probably benign	0.01
R4970:Notch2	UTSW	3	98,008,952 (GRCm39)	critical splice donor site	probably null
R4974:Notch2	UTSW	3	98,046,949 (GRCm39)	missense	probably benign	0.39
R5082:Notch2	UTSW	3	98,007,690 (GRCm39)	missense	probably damaging	1.00
R5112:Notch2	UTSW	3	98,008,952 (GRCm39)	critical splice donor site	probably null
R5156:Notch2	UTSW	3	98,031,626 (GRCm39)	missense	possibly damaging	0.53
R5433:Notch2	UTSW	3	98,033,450 (GRCm39)	missense	probably damaging	1.00
R5539:Notch2	UTSW	3	98,044,898 (GRCm39)	missense	probably damaging	0.99
R5813:Notch2	UTSW	3	98,042,744 (GRCm39)	missense	probably benign
R5827:Notch2	UTSW	3	97,980,178 (GRCm39)	missense	possibly damaging	0.64
R5908:Notch2	UTSW	3	98,031,239 (GRCm39)	intron	probably benign
R6021:Notch2	UTSW	3	98,029,288 (GRCm39)	missense	probably damaging	1.00
R6090:Notch2	UTSW	3	98,042,693 (GRCm39)	nonsense	probably null
R6103:Notch2	UTSW	3	98,043,059 (GRCm39)	missense	possibly damaging	0.94
R6111:Notch2	UTSW	3	98,053,609 (GRCm39)	missense	probably benign	0.00
R6168:Notch2	UTSW	3	98,052,533 (GRCm39)	missense	probably damaging	1.00
R6382:Notch2	UTSW	3	98,048,859 (GRCm39)	missense	probably damaging	1.00
R6404:Notch2	UTSW	3	97,989,314 (GRCm39)	missense	probably damaging	1.00
R6419:Notch2	UTSW	3	98,007,705 (GRCm39)	critical splice donor site	probably null
R6454:Notch2	UTSW	3	98,044,722 (GRCm39)	missense	possibly damaging	0.47
R6626:Notch2	UTSW	3	98,008,921 (GRCm39)	missense	probably damaging	1.00
R6629:Notch2	UTSW	3	98,028,197 (GRCm39)	missense	possibly damaging	0.65
R6706:Notch2	UTSW	3	98,045,746 (GRCm39)	missense	possibly damaging	0.94
R6735:Notch2	UTSW	3	98,041,902 (GRCm39)	missense	probably damaging	1.00
R6837:Notch2	UTSW	3	97,978,170 (GRCm39)	splice site	probably null
R7021:Notch2	UTSW	3	98,042,762 (GRCm39)	missense	probably benign
R7028:Notch2	UTSW	3	98,009,703 (GRCm39)	missense	probably damaging	1.00
R7228:Notch2	UTSW	3	98,044,633 (GRCm39)	nonsense	probably null
R7320:Notch2	UTSW	3	98,038,643 (GRCm39)	missense	possibly damaging	0.94
R7361:Notch2	UTSW	3	98,038,718 (GRCm39)	missense	probably benign	0.04
R7562:Notch2	UTSW	3	98,020,430 (GRCm39)	missense	probably damaging	1.00
R7630:Notch2	UTSW	3	98,044,824 (GRCm39)	missense	possibly damaging	0.65
R7637:Notch2	UTSW	3	98,053,939 (GRCm39)	missense	probably damaging	1.00
R7748:Notch2	UTSW	3	98,045,800 (GRCm39)	missense	possibly damaging	0.69
R7764:Notch2	UTSW	3	98,050,304 (GRCm39)	missense	probably damaging	1.00
R7817:Notch2	UTSW	3	98,014,443 (GRCm39)	missense	probably damaging	1.00
R7952:Notch2	UTSW	3	98,007,552 (GRCm39)	missense	probably benign	0.30
R8136:Notch2	UTSW	3	98,031,537 (GRCm39)	missense	probably damaging	1.00
R8159:Notch2	UTSW	3	98,028,238 (GRCm39)	missense	possibly damaging	0.95
R8679:Notch2	UTSW	3	98,029,218 (GRCm39)	critical splice acceptor site	probably null
R8879:Notch2	UTSW	3	98,042,915 (GRCm39)	missense	possibly damaging	0.73
R9146:Notch2	UTSW	3	98,011,854 (GRCm39)	missense	probably damaging	1.00
R9398:Notch2	UTSW	3	98,009,668 (GRCm39)	missense	probably damaging	1.00
R9422:Notch2	UTSW	3	98,054,668 (GRCm39)	missense	probably damaging	1.00
R9594:Notch2	UTSW	3	98,041,889 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGCACACATTTGGAGACCACTCTTG -3'
(R):5'- ATGGAGTCAGTGAGTCCTGTCAGC -3'

Sequencing Primer
(F):5'- AACCTGAAAACAGAGTGATCTTG -3'
(R):5'- GTGAAGCCTCCGATCTTATCCA -3'

Posted On

2014-03-28